Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Mendeliome v1.2364 | KIAA1549 | Zornitza Stark Marked gene: KIAA1549 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v1.2364 | KIAA1549 | Zornitza Stark Gene: kiaa1549 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v1.2364 | KIAA1549 | Zornitza Stark Classified gene: KIAA1549 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v1.2364 | KIAA1549 | Zornitza Stark Gene: kiaa1549 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v1.2363 | KIAA1549 |
Sangavi Sivagnanasundram gene: KIAA1549 was added gene: KIAA1549 was added to Mendeliome. Sources: ClinGen Mode of inheritance for gene: KIAA1549 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIAA1549 were set to 30120214; 34027671 Phenotypes for gene: KIAA1549 were set to retinitis pigmentosa 86 MONDO:0032834 Review for gene: KIAA1549 was set to GREEN Added comment: Classified as STRONG by ClinGen Retina GCEP on 18/02/2025 - https://search.clinicalgenome.org/CCID:008708 Reported in 5 probands with RP - Green according to PanelApp Sources: ClinGen |